New study focuses on the experience of parents of children with Rare Disease

A new study focusing on the common experience of parents of children with Rare Disease has recently been released. The authors of the study, Jennifer Baumbusch, Samara Mayer and & Isabel Sloan-Yip looked at parents experiences before diagnosis as well as during care to assess current gaps in healthcare as well as support impacting these families.

“Despite the prevalence of rare diseases among children, there has been little research focused on parents’ experiences of navigating the healthcare system, a gap we begin to address in this study.” ,sites the study. It goes on to find that throughout their medical journey in seeking a diagnosis as well as seeking care and support after a diagnosis parents “information needs were not adequately addressed by general practitioners or specialists, including geneticists.” A lack of knowledge and communication as well as services connecting the parents to support and accurate information caused the parents to pursue services independently leading them to become what the study calls “expert caregivers”. An added frustration to the lack of resources and information was that the parent who self developed and self educated to become an “expert caregiver” was often not respected or acknowledged in the medical community that was serving their children, and the parents input was not always taken into consideration in a plan of care or diagnosis. The study recommends a “need to foster more egalitarian relationships” between care givers and specialists to better aid the patients and empower caregivers to create the best plan of care possible.

Parents of children with rare disease experience gaps, and barriers to services which resulted in parents pursuing services that could support their child’s unique care needs, often resulting in out-of-pocket payments and changes to employment. Many caregivers decreased their employment to part-time or left the workplace entirely to be able to focus on the care of the child with rare disease. This combined with a life time of additional health care costs created a great financial stress on these families.

Support for parents comes in finding community to assist their children and also to address their own mental health. “Parents found peer support, both online and in person, to be an effective resource.” The study goes on to say that these barriers were so common among all patients with rare disease that these resources did not need to be specific to their child’s diagnosis, creating a greater opportunity to locate peer support. “Peer support was a key resource in terms of information and emotional support for parents who often begin their journey feeling isolated and alone. Policies and programs are needed that validate the invisible care work of parents and ensure adequate formal supports are in place to mitigate potential sources of inequity for these families.” The study urges the medical system to take on the responsibility of connecting families with resources, suggesting “genetic counselors can play a key role in ensuring parents’ informational needs are addressed at the time of diagnosis and in connecting families who share common experiences regardless of the rare disease diagnosis”.

This study echos the experiences of the parents who founded the Rare Disease Foundation and we are excited to see these issues and values we all share get the spotlight in this study.